Fryns syndrome without diaphragmatic hernia?
- 1 November 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (2) , 255-257
- https://doi.org/10.1002/ajmg.1320410225
Abstract
We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. In contrast to most patients with Fryns syndrome, diaphragmatic hernia was absent in our patient. However, the diaphragm was reduced to a fibrous web with reduced muscular component.Keywords
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